Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PSEN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000452477.1:p.Lys72Asn	CA390303072 ENST00000553599.5:c.216A>C CA390303074 ENST00000553599.5:c.216A>T